{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384545433", "communityStandardTitle": [ "NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834896[alleleid]", "alleleId": 2834896, "preferredName": "NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677750", "RCV": [ "RCV003472435" ], "variationId": 2677750 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48528789G>T?assembly=hg19", "id": "chr12:g.48528789G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48135006G>T?assembly=hg38", "id": "chr12:g.48135006G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2498378481", "rs": 2498378481 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48135006, "referenceAllele": "G", "start": 48135005 } ], "hgvs": [ "NC_000012.12:g.48135006G>T", "CM000674.2:g.48135006G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48528789, "referenceAllele": "G", "start": 48528788 } ], "hgvs": [ "NC_000012.11:g.48528789G>T", "CM000674.1:g.48528789G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46815056, "referenceAllele": "G", "start": 46815055 } ], "hgvs": [ "NC_000012.10:g.46815056G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 34134, "referenceAllele": "G", "start": 34133 } ], "hgvs": [ "NG_016199.1:g.34134G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 34754, "referenceAllele": "G", "start": 34753 } ], "hgvs": [ "NG_016199.2:g.34754G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.1033G>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Gly345Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Gly345_Val854delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.1024G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Gly342Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Gly271Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.811G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.811G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Gly271Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Gly271Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Gly271Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Gly271_Val694delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Gly271Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Gly271Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Gly271Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.1120G>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Gly374Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Gly271Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.1024G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Gly342Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Gly271Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "T", "end": 140, "endIntronDirection": "-", "endIntronOffset": 5764, "referenceAllele": "G", "start": 140, "startIntronDirection": "-", "startIntronOffset": 5765 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.86-5765G>T" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:n.86-5765G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.883G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "G", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*827G>T" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*827G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Gly271Ter", "hgvsWellDefined": "ENSP00000449426.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Gly271Ter", "hgvsWellDefined": "ENSP00000448177.1:p.Gly271_Val749delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.*116G>T" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.*116G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "@id": "http://reg.genome.network/allele/PA2825141722", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.811G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Gly271Ter", "hgvsWellDefined": "NP_000280.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034128", "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "G", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Gly342Ter", "hgvsWellDefined": "NP_001160158.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034580", "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Gly271Ter", "hgvsWellDefined": "NP_001160159.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826035037", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Gly271Ter", "hgvsWellDefined": "NP_001160160.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Gly374Ter", "hgvsWellDefined": "XP_005269031.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Gly374Ter", "hgvsWellDefined": "XP_005269032.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Gly374Ter", "hgvsWellDefined": "XP_005269033.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Gly342Ter", "hgvsWellDefined": "XP_005269034.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "G", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Gly342Ter", "hgvsWellDefined": "XP_005269035.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Gly342Ter", "hgvsWellDefined": "XP_005269036.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Gly374Ter", "hgvsWellDefined": "XP_011536789.1:p.Gly374_Val852delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.811G>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Gly271Ter", "hgvsWellDefined": "XP_011536790.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141722", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.811G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Gly271Ter", "hgvsWellDefined": "NP_000280.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.811G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.811G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Gly271Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Gly271Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034128", "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Gly342Ter", "hgvsWellDefined": "NP_001160158.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929240", "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Gly374Ter", "hgvsWellDefined": "NP_001341664.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2741867978", "coordinates": [ { "allele": "T", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.1120G>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Gly374Ter", "hgvsWellDefined": "NP_001341665.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827930029", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Gly342Ter", "hgvsWellDefined": "NP_001341666.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930492", "coordinates": [ { "allele": "T", "end": 1099, "referenceAllele": "G", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Gly342Ter", "hgvsWellDefined": "NP_001341667.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930944", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Gly342Ter", "hgvsWellDefined": "NP_001341668.1:p.Gly342_Val851delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931394", "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.955G>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Gly319Ter", "hgvsWellDefined": "NP_001341669.1:p.Gly319_Val828delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931844", "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.835G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Gly279Ter", "hgvsWellDefined": "NP_001341670.1:p.Gly279_Val788delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932301", "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341671.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932758", "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341672.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933215", "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341673.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933650", "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.724G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Gly242Ter", "hgvsWellDefined": "NP_001341674.1:p.Gly242_Val751delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827934107", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341675.1:p.Gly271_Val738delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934497", "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.661G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Gly221Ter", "hgvsWellDefined": "NP_001341676.1:p.Gly221_Val730delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827934915", "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.661G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Gly221Ter", "hgvsWellDefined": "NP_001341677.1:p.Gly221_Val730delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100539", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Gly271Ter", "hgvsWellDefined": "NP_001350548.1:p.Gly271_Val749delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.996G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "G", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.1632G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.922G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.996G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.996G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.922G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "G", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.1120G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Gly374Ter", "hgvsWellDefined": "XP_005269033.1:p.Gly374_Val883delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Gly342Ter", "hgvsWellDefined": "XP_016874958.1:p.Gly342_Val820delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.1033G>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Gly345Ter", "hgvsWellDefined": "XP_024304788.1:p.Gly345_Val854delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.910G>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Gly304Ter", "hgvsWellDefined": "XP_024304789.1:p.Gly304_Val813delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.811G>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Gly271Ter", "hgvsWellDefined": "XP_024304790.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034580", "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Gly271Ter", "hgvsWellDefined": "NP_001160159.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826035037", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Gly271Ter", "hgvsWellDefined": "NP_001160160.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931844", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.835G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Gly279Ter", "hgvsWellDefined": "NP_001341670.1:p.Gly279_Val788delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932301", "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "G", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341671.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932758", "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "G", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341672.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933215", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341673.1:p.Gly271_Val780delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933650", "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.724G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Gly242Ter", "hgvsWellDefined": "NP_001341674.1:p.Gly242_Val751delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827934107", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Gly271Ter", "hgvsWellDefined": "NP_001341675.1:p.Gly271_Val738delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934497", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "G", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.661G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Gly221Ter", "hgvsWellDefined": "NP_001341676.1:p.Gly221_Val730delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827934915", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.661G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Gly221Ter", "hgvsWellDefined": "NP_001341677.1:p.Gly221_Val730delinsLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100539", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.811G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Gly271Ter", "hgvsWellDefined": "NP_001350548.1:p.Gly271_Val749delinsLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.862G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.788G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.862G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.862G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.788G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }